Canonical Allele Identifier: CA381649348

Gene: IGHMBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933454A>G , CM000673.2:g.68933454A>G	GRCh38
NC_000011.9:g.68700922A>G , CM000673.1:g.68700922A>G	GRCh37
NC_000011.8:g.68457498A>G	NCBI36
NG_007976.1:g.34604A>G , LRG_250:g.34604A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002180.3:c.1391A>G MANE Select	NP_002171.2:p.His464Arg
ENST00000255078.8:c.1391A>G MANE Select	ENSP00000255078.4:p.His464Arg
NM_002180.2:c.1391A>G , LRG_250t1:c.1391A>G	NP_002171.2:p.His464Arg
ENST00000255078.7:c.1391A>G	ENSP00000255078.3:p.His464Arg
ENST00000536803.2:n.302A>G
ENST00000537458.5:n.508A>G
ENST00000539064.5:n.1150A>G
ENST00000543739.5:n.508A>G
ENST00000674955.1:c.*108A>G	ENSP00000502463.1:n.*108A>G
ENST00000675118.1:c.879A>G
ENST00000675205.1:n.156A>G
ENST00000675310.1:n.528A>G
ENST00000675615.1:c.1391A>G	ENSP00000502413.1:p.His464Arg
ENST00000675648.1:n.766A>G
ENST00000675997.1:n.113-1010A>G
ENST00000676149.1:n.465A>G
ENST00000676173.1:n.2136A>G
ENST00000676228.1:c.*714A>G	ENSP00000502375.1:n.*714A>G
XM_005273974.2:c.380A>G	XP_005274031.1:p.His127Arg
XM_005273975.2:c.263A>G	XP_005274032.1:p.His88Arg
XM_005273975.3:c.263A>G	XP_005274032.1:p.His88Arg
XM_011544994.1:c.158A>G	XP_011543296.1:p.His53Arg
XM_017017669.2:c.380A>G	XP_016873158.1:p.His127Arg
XM_017017670.2:c.380A>G	XP_016873159.1:p.His127Arg
XM_017017671.2:c.1391A>G	XP_016873160.1:p.His464Arg
XR_949903.1:n.1493A>G
XR_949903.3:n.1489A>G